| Variant ID | 34710 |
|---|---|
| Entrez Gene ID | 89795 |
| Gene | NAV3 (GeneCards) |
| Location | hg19 12:78571018-78571018
hg38 12:78177238-78177238 |
| Disease | Asymptomatic |
| Method | Whole Exome Sequencing Target Amplicon Sequencing Pyrosequencing |
| Mutation(HGVS format) | NC_000012.11:g.78571018 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 27 |
| Position in protein | 1741 |
| Amino acid changes in protein | P > L |
| Position in cDNA | 5222 |
| Changes in cDNA | C > T |
| mRNA accession | NM_001024383.1 |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003234 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs148932437 |
| Variant IDs in COSMIC (version 89) | 4757913 |
| Variant occurences in COSMIC | 1(stomach) |
| EIGEN score | 0.8377 |
| CADD Raw score (version 1.3) | 6.626662 (Deleterious) |
| FATHMM raw prediction score | 0.98823 (Tolerated) |
| SIFT score | 0.006 (Deleterious) |
| LRT score | 0.001 |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.91 (Deleterious) |
| PROVEAN score | -8.65 (Deleterious) |
| MetaSVM score | 0.939 (Deleterious) |
| MetaLR score | 0.894 (Deleterious) |
| MCAP score | 0.126 (Deleterious) |
| FitCons score | 0.563 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.95 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.905 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.393 |
| Deleterious probability by iFish2 | 0.9155 (Deleterious) |
| Deleterious probability by DeFine | 0.9227 (Deleterious) |
| Entrez Gene ID | 89795 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NAV3 (GeneCards) |
| Number of variants in NAV3 in this database | 15 (view all the variants) |
| Full name | neuron navigator 3 |
| Band | 12q21.2 |
| Other IDs | Vega: OTTHUMG00000170001 OMIM: 611629 HGNC: HGNC:15998 Ensembl: ENSG00000067798 |
| Other names | POMFIL1, nc53H3, STEERIN3 |
| Summary | This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008] |
| Individual ID | 29654278.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29654278 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29654278 |
|---|---|
| Title | Identification of somatic mutations in monozygotic twins discordant for psychiatric disorders |
| Journal | NPJ Schizophrenia |
| Publication date | 2018.04 |
| Disease | Delusional Disorder |
| Number of cases | Female cases: 2; |